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rs387906424

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906424(A;T)
Make rs387906424(T;T)
ReferenceGRCh37.p10 37.5/138
ChromosomeMT
Position14596
GeneZSCAN12
is asnp
is mentioned by
dbSNPrs387906424
ebirs387906424
HLIrs387906424
Exacrs387906424
Varsomers387906424
Maprs387906424
PheGenIrs387906424
hapmaprs387906424
1000 genomesrs387906424
hgdprs387906424
ensemblrs387906424
gopubmedrs387906424
geneviewrs387906424
scholarrs387906424
googlers387906424
pharmgkbrs387906424
gwascentralrs387906424
openSNPrs387906424
23andMers387906424
23andMe allrs387906424
SNP Nexus

SNPshotrs387906424
SNPdbers387906424
MSV3drs387906424
GWAS Ctlgrs387906424
Max Magnitude0
ClinVar
Risk rs387906424(T;T)
Alt rs387906424(T;T)
Reference rs387906424(A;A)
Significance Pathogenic
Disease Leber hereditary optic neuropathy with dystonia Leber's optic atrophy
Variation info
Gene ND6
CLNDBN Leber hereditary optic neuropathy with dystonia Leber's optic atrophy
Reversed 0
HGVS NC_012920.1:m.14596A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010329.2, RCV000055704.1,